Evaluation of patients applying to the muscle diseases center

Neuromuscular diseases (NMD), acquired or genetically formed; It is expressed as a heterogeneous, extremely comprehensive group of diseases with various types, caused by a pathology in the anterior horn cells, peripheral nerves, neuromuscular junction or the muscle itself, causing functional deficiencies at different levels (1, 2). In this study, it was aimed to determine the types of muscle diseases, to determine their frequency, to evaluate the system involvement and also to be a guide for the relevant health professionals. The study was conducted as a retrospective, descriptive research. 133 patients followed in Diyarbakır Gazi Yaşargil Training and Research Hospital and archived between January 2012 and February 2022 were evaluated retrospectively. 59.4% of the individuals are male, 73.7% are between the ages of 18-39, 15.0% are illiterate and 75.9% are not working. Patients consisted of patients with Becker Muscular Dystrophy, Limb-girdle Muscular Dystrophy, Fasioscapulohumeral Muscular Dystrophy, Congenital Muscular Dystrophy, and Myotonic Dystrophy. The most common muscle disease is Limb-girdle Muscular Dystrophy (30.1%). Becker Muscular Dystrophy (1.5%) is the least common muscle disease. The most commonly involved system in all muscle diseases is the cardiovascular system (93.1%). Respiratory system involvement (40.6%), urogenital system involvement (32.3%), gastrointestinal system involvement (36.1%), central nervous system involvement (22.6%) were found. The vast majority of patients do not have vision loss (7.5%) or hearing loss (2.3%). Psychiatric disease status (40.6%) is present in less than half of the patients. A positive family history was found in 79.4% of the patients. A second degree positive family history was found in 85.0% of those with limb-girdle muscular dystrophy. Central nervous system involvement was found to be higher in patients with Limb-girdle Muscular Dystrophy and Fasioscapulohumeral Muscular Dystrophy compared to Congenital Muscular Dystrophy and Myotonic Dystrophy. While psychiatric disease status was higher in Limb-girdle Muscular Dystrophy (55.0%) and Fasioscapulohumeral Muscular Dystrophy (57.7%), it was lower in patients with Congenital Muscular Dystrophy (32.1%) and Myotonic Dystrophy (18.9%). As a result, the education level of the individuals participating in the study is low, and the majority of them are non-working individuals. Most patients complain of general weakness and have a positive family history. In our study, the period between the age at which the first symptoms occur in muscle patients and the age at which the diagnosis was made was found to be a long time in terms of the health sector. It was observed that the most involved systems were cardiac system, respiratory system and central nervous system. Psychiatric disease status has been determined in individuals.